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Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients

19 Jun 2025

Abstract excerpt

BACKGROUND: Mutations in NEK1, encoding for a serine/threonine kinase which regulates several biological processes, are associated with amyotrophic lateral sclerosis (ALS). METHODS: NEK1 was analysed by amplicon deep sequencing in a cohort of 1016 Italian sporadic and familial ALS patients previously screened for C9orf72, SOD1, TARDBP and FUS mutations. RESULTS: We identified 28 rare NEK1 variants in 29 patients...

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PMID: 40536530
DOI: 10.1007/s00415-025-13153-6

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